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P199 HEXA

SALSA MLPA Probemix HEXA detects copy number variations in the HEXA gene.

Specifications

Contents: 28 MLPA probes, including 16 probes for HEXA, and probes for HEXA c.1278insTATC (c.1274_1277dupTATC; p.Tyr427Ile; 1277TATC) and c.1421+1G>C (IVS12+1G>C).

Tissue: human genomic DNA.

Application: research on Tay-Sachs disease.

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

General information

The SALSA MLPA Probemix P199 HEXA is a research use only (RUO) assay for the detection of deletions or duplications in the HEXA gene, which is associated with Tay-Sachs disease. This probemix can also be used to detect the presence of the c.1278insTATC (also known as c.1274_1277dupTATC (p.Tyr427Ilefs) and 1277TATC) and IVS12+1G>C (also known as c.1421+1G>C) mutations.

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder, which is in the classic infantile form usually fatal before the age of two or three years. Defects in the HEXA gene encoding the alpha subunit of the hexosaminidase enzyme are the cause of Tay-Sachs disease. Some less severe defects in the HEXA gene cause a late-onset form of the disease. Due to some founder mutations, Tay-Sachs disease is frequent among Ashkenazi Jews. The c.1278insTATC mutation is found in 80% of the carriers of Tay-Sachs disease from the Ashkenazi Jew population. A 7.6-kb genomic deletion of the HEXA promoter and exon 1 is the major mutation found in Tay-Sachs disease carriers from the French-Canadian population.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1218/.

Regulatory status

SALSA MLPA Probemix P199 HEXA is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD030 is an artificial DNA sample with a signal for all probes in the P199 HEXA probemix. Inclusion of a reaction with SD030 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD030 is included with every order of the P199 HEXA probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P199-025R
SALSA MLPA Probemix P199 HEXA – 25 rxn
MLPA
€ 296.00
P199-050R
SALSA MLPA Probemix P199 HEXA – 50 rxn
MLPA
€ 580.00
P199-100R
SALSA MLPA Probemix P199 HEXA – 100 rxn
MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD030
SALSA Binning DNA SD030 – 6 rxn
MLPA
€ 25.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below can be used with the current (B3) version of this product.

  • Coriell NA00502: Heterozygous positive for the HEXA c.1274_1277dupTATC (1278insTATC) and c.1421+1G>C (IVS12+1G>C) mutations.
  • Coriell NA03184: Heterozygous duplication affecting the probes for HEXA.

Resources

General MLPA resources

MLPA education

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